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Thyroid Cancer Panel

The Thyroid Cancer Panel is a comprehensive next-generation sequencing (NGS) panel that analyzes genes associated with increased risks for hereditary thyroid cancer.

Thyroid cancer affects approximately 1.2% of individuals in their lifetime (SEERP). Although the majority of thyroid cancer is not related to heritable factors, approximately 25% of medullary thyroid cancer and approximately 5-15% of non-medullary thyroid cancer are related to heritable factors (Nose, 2011). Individuals who carry disease causing genetic changes may be at significantly increased risk of developing thyroid cancer in their lifetime. For example, individuals with a pathogenic RET mutation have >95% lifetime risk to develop medullary thyroid cancer (Marquard et al, 1999). Frequently, changes in genes that result in increased risks for thyroid cancer also predispose individuals to increased risks for other cancers.

Included Disorders

This panel includes genes associated with:

  • Familial adenomatous polyposis
  • Li-Fraumeni syndrome
  • Multiple endocrine neoplasia type II
  • Cowden syndrome
  • DICER1 syndrome


Hereditary thyroid cancer is typically inherited in an autosomal dominant manner.

Indications for Testing

  • A personal history of early thyroid cancer
  • A personal history of medullary thyroid cancer or pheochromocytoma
  • A personal history of multiple primary cancers
  • A family history suggestive of a hereditary cancer syndrome, including multiple individuals on the same side of a family diagnosed with cancer, especially at ages below population averages
  • Risk assessment for asymptomatic family of members of proband with molecular diagnosis of a hereditary cancer syndrome


Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering.

Included Genes (7)


Additions to the Thyroid Cancer Panel:

Emerging evidence genes can also be added onto the comprehensive panel. These genes do not have a clear association with hereditary thyroid cancer, but emerging evidence suggests that they may play a role in disease pathogenesis.

Emerging Evidence (4):



  • Marquard J, Eng C. Multiple Endocrine Neoplasia Type 2. 1999 Sep 27 [Updated 2015 Jun 25]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1257/
  • NosĂ© V. Familial thyroid cancer: a review. Mod Pathol. 2011;24 Suppl 2:S19-33.
  • Surveillance, Epidemiology, and End Results Program (SEERP). Cancer Stat Fact Sheets [Accessed April 20, 2017]. Available from: http://seer.cancer.gov/